Variant Allele Frequency Analysis of Circulating Tumor DNA as a Promising Tool in Assessing the Effectiveness of Treatment in Non-Small Cell Lung Carcinoma Patients
Natalia Galant, Marcin Nicoś, Barbara Kuźnar-Kamińska, Paweł Adam Krawczyk · 2024 · 18 citationsRead the paper
Despite the different possible paths of treatment, lung cancer remains one of the leading causes of death in oncological patients. New tools guiding the therapeutic process are under scientific investigation, and one of the promising indicators of the effectiveness of therapy in patients with NSCLC is variant allele frequency (VAF) analysis. VAF is a metric characterized as the measurement of the specific variant allele proportion within a genomic locus, and it can be determined using methods based on NGS or PCR. It can be assessed using not only tissue samples but also ctDNA (circulating tumor DNA) isolated from liquid biopsy. The non-invasive characteristic of liquid biopsy enables a more frequent collection of material and increases the potential of VAF analysis in monitoring therapy. Several studies have been performed on patients with NSCLC to evaluate the possibility of VAF usage. The research carried out so far demonstrates that the evaluation of VAF dynamics may be useful in monitoring tumor progression, remission, and recurrence during or after treatment. Moreover, the use of VAF analysis appears to be beneficial in making treatment decisions. However, several issues require better understanding and standardization before VAF testing can be implemented in clinical practice. In this review, we discuss the difficulties in the application of ctDNA VAF analysis in clinical routine, discussing the diagnostic and methodological challenges in VAF measurement in liquid biopsy. We highlight the possible applications of VAF-based measurements that are under consideration in clinical trials in the monitoring of personalized treatments for patients with NSCLC.
What the full text shows
Working prototype- ctDNA detection frequency in NSCLC patients correlates positively with cancer stage. — 24% (Stage I), 77% (Stage II), 87% (Stage III) (Pre-treatment NSCLC patients)
- VAF changes can precede radiographic evidence of response to durvalumab therapy. — 42% of patients (Bladder or NSCLC patients)
- Molecular response (VAF ratio) at week 6 correlates with longer PFS, OS, and treatment duration. — VAF <50% at 6th week (NSCLC patients treated with pembrolizumab (monotherapy or combination))
- Concordance of driver mutations between BAL/BW fluids and tumor tissue is high. — up to 95% (NSCLC patients)
- VAF measurements after two cycles of therapy discriminate partial remission (PR) from stable or progressive disease. (Advanced squamous lung cancer patients treated with camrelizumab and platinum-based chemotherapy)
- Setup
- Various cohorts including 88 NSCLC patients for stage-based detection and 22 advanced NSCLC patients for immunotherapy response.
- How
- Review of existing literature and clinical trials comparing VAF measured via NGS and ddPCR across various body fluids (plasma, BAL, BW, CSF). Analysis focuses on the correlation between VAF dynamics and clinical outcomes (PFS, OS, radiological response).
- Limitations
- Low sensitivity of current methods for MRD monitoring due to low VAF values. · Invasive nature of BAL, BW, and CSF collection. · Lack of standardized VAF calculation formulas (mean vs. median vs. maximum). · Potential for false positives due to clonal hematopoiesis in elderly patients.
Summarized by Gemma 4 from the open-access full text · 8 Oct 2026. Read it